Klinefelter syndrome karyotype 47, XXY

This code identifies Klinefelter syndrome, a genetic condition in males characterized by the presence of an extra X chromosome, specifically the 47, XXY karyotype. Individuals typically present with hypogonadism, infertility, and often exhibit taller stature, learning difficulties, and other developmental variations.

Use this code when documentation explicitly states a diagnosis of Klinefelter syndrome with a confirmed 47, XXY karyotype. This is appropriate for initial diagnosis, ongoing management, and when genetic testing results confirm this specific chromosomal abnormality.

• Ensure the medical record clearly specifies the 47, XXY karyotype; do not use for other Klinefelter variants.
• Consider co-reporting associated conditions such as male infertility (N46.8) or developmental delays (F80-F89 range) if documented.
• This code is for the genetic condition itself, not for symptoms or complications, which should be coded separately.